Mutagenetix > Incidental Mutation

Incidental Mutation 'R6884:Serpina1b'

536860

Institutional Source

Beutler Lab

Gene Symbol

Serpina1b

Ensembl Gene

ENSMUSG00000071178

Gene Name

serine (or cysteine) preptidase inhibitor, clade A, member 1B

Synonyms

PI2, D12Ucla2, Spi1-2

MMRRC Submission

044979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6884 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103694415-103704448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103698712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 46 (T46S)

Ref Sequence

ENSEMBL: ENSMUSP00000139941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095450] [ENSMUST00000164454] [ENSMUST00000186166] [ENSMUST00000187220]

AlphaFold

P22599

Predicted Effect

probably benign
Transcript: ENSMUST00000095450
AA Change: T46S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: T46S

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164454
AA Change: T46S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: T46S

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186166
AA Change: T46S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: T46S

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187220

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted disruption of this gene leads to significantly fewer than expected heterozygous and homozygous offspring from heterozygous matings. Homozygotes are healthy with no obvious changes in major organs while heterozygotes show a 30% decrease in serum anti-elastase and anti-chymotrypsin activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,407 (GRCm39)		probably benign	Het
Abca5	C	T	11: 110,220,043 (GRCm39)	V8M	probably damaging	Het
Ahnak2	A	T	12: 112,741,863 (GRCm39)	D736E	possibly damaging	Het
Brpf3	A	G	17: 29,050,324 (GRCm39)	D1072G	probably benign	Het
Cacna1i	C	T	15: 80,259,010 (GRCm39)	R1240C	probably damaging	Het
Ccdc40	A	T	11: 119,133,565 (GRCm39)	E568D	possibly damaging	Het
Col12a1	C	T	9: 79,547,091 (GRCm39)	G2247E	possibly damaging	Het
Dapk3	T	A	10: 81,027,588 (GRCm39)		probably null	Het
Dcaf13	T	C	15: 38,986,635 (GRCm39)	W136R	probably damaging	Het
Dip2a	C	A	10: 76,108,366 (GRCm39)		probably null	Het
Eif3c	T	C	7: 126,156,051 (GRCm39)	D473G	probably benign	Het
Erich2	G	A	2: 70,339,505 (GRCm39)	R20H	possibly damaging	Het
Gcnt7	T	C	2: 172,296,125 (GRCm39)	N233S	probably damaging	Het
Gdpd4	G	T	7: 97,621,382 (GRCm39)	L208F	probably damaging	Het
Gm10269	T	A	18: 20,815,932 (GRCm39)	Q30L	possibly damaging	Het
Gm7298	A	T	6: 121,737,480 (GRCm39)	I295F	possibly damaging	Het
Htr7	A	G	19: 35,941,779 (GRCm39)		probably null	Het
Ing1	A	G	8: 11,611,916 (GRCm39)	Y118C	probably damaging	Het
Krtap16-1	C	T	11: 99,877,284 (GRCm39)	W40*	probably null	Het
Krtap26-1	A	T	16: 88,444,467 (GRCm39)	D51E	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp1	T	A	10: 127,394,986 (GRCm39)	Q2513L	probably benign	Het
Morf4l1	A	T	9: 89,976,532 (GRCm39)	N265K	probably damaging	Het
Mpp2	T	C	11: 101,952,904 (GRCm39)	D299G	probably benign	Het
Mtcl1	C	T	17: 66,745,197 (GRCm39)	G55R	probably damaging	Het
Myb	T	A	10: 21,028,431 (GRCm39)	K144I	probably damaging	Het
Myo18a	T	C	11: 77,709,875 (GRCm39)	I587T	possibly damaging	Het
Nr2c2	A	G	6: 92,135,374 (GRCm39)	S288G	probably benign	Het
Obscn	A	G	11: 58,969,128 (GRCm39)	Y2700H	probably damaging	Het
Or2z9	T	C	8: 72,854,345 (GRCm39)	V247A	probably benign	Het
Or6c3	T	A	10: 129,309,023 (GRCm39)	F154Y	probably damaging	Het
Pde6b	A	G	5: 108,536,574 (GRCm39)	D90G	probably damaging	Het
Pigo	A	G	4: 43,022,627 (GRCm39)	F315L	possibly damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ret	T	C	6: 118,132,362 (GRCm39)	D1026G	probably damaging	Het
Rptn	A	T	3: 93,303,096 (GRCm39)	Q143L	probably benign	Het
Rubcnl	A	G	14: 75,272,910 (GRCm39)	E210G	probably benign	Het
Serpinb9e	A	T	13: 33,435,609 (GRCm39)	H14L	probably benign	Het
Shoc1	A	G	4: 59,059,652 (GRCm39)	S1003P	possibly damaging	Het
Slc25a25	A	C	2: 32,310,674 (GRCm39)	V168G	probably benign	Het
Slc35e1	T	C	8: 73,238,726 (GRCm39)	T261A	possibly damaging	Het
Spocd1	T	C	4: 129,849,197 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,995,514 (GRCm39)	Y178N	probably damaging	Het
Top1mt	C	T	15: 75,535,893 (GRCm39)	E470K	probably benign	Het
Traj42	T	C	14: 54,413,290 (GRCm39)		probably benign	Het
Tshr	T	C	12: 91,504,876 (GRCm39)	Y13H	probably damaging	Het
Uvssa	A	G	5: 33,566,461 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,633 (GRCm39)	V159I	probably benign	Het
Vmn2r73	T	A	7: 85,507,213 (GRCm39)	T700S	probably benign	Het

Other mutations in Serpina1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Serpina1b	APN	12	103,695,555 (GRCm39)	missense	possibly damaging	0.90
IGL00990:Serpina1b	APN	12	103,694,525 (GRCm39)	missense	probably damaging	1.00
IGL01947:Serpina1b	APN	12	103,695,576 (GRCm39)	missense	probably benign	0.00
IGL03258:Serpina1b	APN	12	103,696,655 (GRCm39)	missense	probably benign	0.00
IGL03392:Serpina1b	APN	12	103,698,329 (GRCm39)	missense	possibly damaging	0.53
R1937:Serpina1b	UTSW	12	103,698,420 (GRCm39)	missense	probably benign	0.00
R2383:Serpina1b	UTSW	12	103,694,539 (GRCm39)	missense	probably benign
R3789:Serpina1b	UTSW	12	103,695,531 (GRCm39)	missense	probably damaging	1.00
R4690:Serpina1b	UTSW	12	103,698,639 (GRCm39)	missense	probably damaging	1.00
R5164:Serpina1b	UTSW	12	103,698,346 (GRCm39)	missense	probably benign	0.01
R5650:Serpina1b	UTSW	12	103,694,694 (GRCm39)	critical splice acceptor site	probably null
R6017:Serpina1b	UTSW	12	103,695,531 (GRCm39)	missense	probably damaging	1.00
R6241:Serpina1b	UTSW	12	103,695,515 (GRCm39)	splice site	probably null
R6522:Serpina1b	UTSW	12	103,701,296 (GRCm39)	splice site	probably null
R6745:Serpina1b	UTSW	12	103,696,614 (GRCm39)	missense	possibly damaging	0.60
R7053:Serpina1b	UTSW	12	103,698,688 (GRCm39)	missense	possibly damaging	0.93
R7208:Serpina1b	UTSW	12	103,694,553 (GRCm39)	missense	probably benign	0.04
R7679:Serpina1b	UTSW	12	103,696,774 (GRCm39)	missense	probably damaging	1.00
R7908:Serpina1b	UTSW	12	103,694,566 (GRCm39)	missense	possibly damaging	0.65
R8056:Serpina1b	UTSW	12	103,784,137 (GRCm39)	intron	probably benign
R8237:Serpina1b	UTSW	12	103,785,063 (GRCm39)	splice site	probably null
R9092:Serpina1b	UTSW	12	103,696,540 (GRCm39)	missense	probably benign	0.00
R9112:Serpina1b	UTSW	12	103,698,699 (GRCm39)	missense	probably benign	0.08
R9123:Serpina1b	UTSW	12	103,696,566 (GRCm39)	missense	probably damaging	1.00
R9310:Serpina1b	UTSW	12	103,698,756 (GRCm39)	missense	probably benign	0.03
R9358:Serpina1b	UTSW	12	103,694,653 (GRCm39)	missense	possibly damaging	0.61
R9409:Serpina1b	UTSW	12	103,694,607 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTGGATGTCAGCCTCC -3'
(R):5'- AGTGGTAGCTGATAGGAGTCACC -3'

Sequencing Primer
(F):5'- ATGTCAGCCTCCGATGTTTG -3'
(R):5'- GCTGATAGGAGTCACCACAGC -3'

Posted On

2018-10-18